PDE6H gene related symptoms and diseases
All the information presented here about the PDE6H gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PDE6H gene
Symptoms // Phenotype | % Cases |
---|---|
Nystagmus | Very Common - Between 80% and 100% cases |
Central scotoma | Very Common - Between 80% and 100% cases |
Myopia | Very Common - Between 80% and 100% cases |
Blindness | Very Common - Between 80% and 100% cases |
Reduced visual acuity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PDE6H gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Photophobia
- Blue cone monochromacy
- Dyschromatopsia
- Achromatopsia
Not very common - Between 30% and 50% cases
- Monochromacy
- Granular macular appearance
- Cone/cone-rod dystrophy
- Visual loss
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PDE6H gene
Here you will find a list of rare diseases related to the PDE6H. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACHROMATOPSIA
Alternate names
ACHROMATOPSIA Is also known as total color blindness, rod monochromatism, rod monochromacy 2, rmch2, colorblindness, total, rod monochromacy, achm, complete or incomplete color blindness, pingelapese blindness, rod monochromatism 2
Description
Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
Most common symptoms of ACHROMATOPSIA
- Nystagmus
- Visual impairment
- Myopia
- Blindness
- Reduced visual acuity
More info about ACHROMATOPSIA
RETINAL CONE DYSTROPHY 3A; RCD3A
Alternate names
RETINAL CONE DYSTROPHY 3A; RCD3A Is also known as cone dystrophy with night blindness and supernormal rod responses, pde6h-related
Most common symptoms of RETINAL CONE DYSTROPHY 3A; RCD3A
- Nystagmus
- Myopia
- Blindness
- Visual loss
- Reduced visual acuity
More info about RETINAL CONE DYSTROPHY 3A; RCD3A
Search interest in PDE6H
Potential gene panels for PDE6H gene
Cone-Rod Dystrophy Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Cone-Rod Dystrophy Panel that also includes the following genes: RPGR CNNM4 SEMA4A TULP1 CFAP410 BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1
More info about this panelPDE6H Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PDE6H gene.
More info about this panelAchromatopsia 6 (sequence analysis of PDE6H gene) Panel
By CGC Genetics
This panel specifically test the PDE6H gene.
More info about this panelCone-rod dystrophy (NGS panel of 36 genes) Panel
By CGC Genetics Cone-rod dystrophy (NGS panel of 36 genes) that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelAchromatopsia 6 or Retinal Cone Dystrophy 3 via PDE6H Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PDE6H gene.
More info about this panelLeber Congenital Amaurosis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3
More info about this panelCone-Rod Dystrophy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cone-Rod Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1
More info about this panelAchromatopsia (ACHM) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Achromatopsia (ACHM) Sequencing Panel with CNV Detection that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelAchromatopsia 6 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PDE6H gene.
More info about this panelAchromatopsia Panel Panel
By CeGaT GmbH Achromatopsia Panel that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panelCone Rod Dystrophies Panel Panel
By CeGaT GmbH Cone Rod Dystrophies Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelSingle gene testing PDE6H Panel
By CeGaT GmbH
This panel specifically test the PDE6H gene.
More info about this panelCone-Rod Dystrophy Panel
By Asper Biogene Asper Biogene LLC Cone-Rod Dystrophy that also includes the following genes: RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1 RAX2
More info about this panelAchromatopsia Panel
By Asper Biogene Asper Biogene LLC Achromatopsia that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelRetinal Dystrophy Panel Panel
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelCone Rod Dystrophy panel Panel
By Molecular Vision Laboratory Cone Rod Dystrophy panel that also includes the following genes: RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2
More info about this panelAchromatopsia panel Panel
By Molecular Vision Laboratory Achromatopsia panel that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelAchromatopsia Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Achromatopsia that also includes the following genes: CNGA3 CNGB3 GNAT2 PDE6C PDE6H
More info about this panelCone rod dystrophy Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Cone rod dystrophy that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelAchromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelAchromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panelPDE6H Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PDE6H gene.
More info about this panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelAchromatopsia Panel Panel
By Blueprint Genetics Achromatopsia Panel that also includes the following genes: RGS9 CNGA3 CNGB3 RGS9BP GNAT2 ATF6 PDE6C PDE6H
More info about this panelCone Rod Dystrophy Panel Panel
By Blueprint Genetics Cone Rod Dystrophy Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1
More info about this panelACHROMATOPSIA Panel
By Laboratorio de Genetica Clinica SL ACHROMATOPSIA that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panelACHROMATOPSIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL ACHROMATOPSIA NGS PANEL that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H
More info about this panelCONE-ROD DYSTROPHY Panel
By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelCone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes Panel
By Reference Laboratory Genetics Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panelAchromatopsia , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CNGA3 CNGB3 GNAT2 PDE6C PDE6H
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